Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q283Fs
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NR0B1

NM_000475.5:p.Q283Fs

Associated Papers

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.

Iughetti L et al.

Bmc Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."